Varaico: Literature-Extracted Genetic Variants

KLF1

341 papers

RefSeq Summary

This gene encodes a hematopoietic-specific transcription factor that induces high-level expression of adult beta-globin and other erythroid genes. The zinc-finger protein binds to the DNA sequence CCA...

Pfam Domains

EKLF_TAD1aa 22–48UCSCErythroid krueppel-like transcription factor, transactivation 1

EKLF_TAD2aa 59–85UCSCErythroid krueppel-like transcription factor, transactivation 2

zf-C2H2aa 279–303UCSCZinc finger, C2H2 type

zf-C2H2aa 309–333UCSCZinc finger, C2H2 type

zf-C2H2aa 339–361UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

KLF transcription factor 1

HGNC Alias Symbol

EKLF

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_006563.5

p.Q213*

c.637C>T

Surrounding Variants

1 paper

NM_006563.5

p.Q211R

c.632A>G

2 papers

NM_006563.5

p.Q211*

c.631C>T

1 paper

NM_006563.5

p.H215Y

c.643C>T

3 papers

NM_006563.5

p.P210R

c.629C>G

1 paper

NM_006563.5

p.F216_Q217insA

c.646_650ins3

1 paper

NM_006563.5

p.F216L

c.646T>C

1 paper

NM_006563.5

p.A209V

c.626C>T

1 paper

NM_006563.5

p.F216L

c.648C>G

1 paper

NM_006563.5

p.F216L

c.648C>A

6 papers

NM_006563.5

p.Q217*

c.649C>T

3 papers

NM_006563.5

p.Y207*

c.621C>G

3 papers

NM_006563.5

p.Y207*

c.621C>A